Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series.
Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series.
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DOI：
10.1016/j.xkme.2022.100419
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发表时间：
2022-03
期刊：
影响因子：
3.9
通讯作者：
Chebib FT
中科院分区：
文献类型：
--
作者：
Hanna C;Potretzke TA;Chedid M;Rangel LJ;Arroyo J;Zubidat D;Tebben PJ;Cogal AG;Torres VE;Harris PC;Sas DJ;Lieske JC;Milliner DS;Chebib FT
遗传性低磷血症伴高钙尿症(HHRH)是一种罕见的单基因疾病，由SLC34A3致病变异体引起。HHRH的特点是肾脏磷酸盐消耗、低磷血症、高钙尿、1，25-二羟基维生素D水平升高、肾钙沉着症和尿石症。在此之前，我们报告了相关的细胞色素P24A1缺乏症患者有100%的肾囊肿患率。因此，在目前的研究中，我们描述了高钙尿症、肾钙素沉着症和尿石症的另一个单基因致病因素--HHRH中囊性病变的存在。案件系列。梅奥诊所和罕见的肾结石联盟单基因结石疾病数据库的医疗记录被查询，以寻找基因确认的HHRH诊断患者。记录每个患者的肾囊肿数、大小和位置。共检出12例SLC34A3致病变异体，其中7例为单等位基因，5例为双等位基因。其中5人(42%)为男性，临床表现的中位数(Q1，Q3)为16岁(13，35岁)，遗传确诊时的中位数(Q1，Q3)为42岁(20，57岁)。12例患者中有9例(75%)存在肾囊肿，首次发现囊肿的中位年龄(Q1，Q3)为41岁(13，50岁)。平均每例患者囊肿数为2.0个(0.5个，3.5个)。50%的成年患者的囊肿数超过了年龄和性别匹配的对照组人口的97.5个百分位数。所有儿童都有至少2个或更多的总包囊。没有人有囊性肾脏疾病的家族病史。回溯性研究，可能的选择偏差，单中心经验。观察到HHRH与肾囊肿有很强的相关性。HHRH和CYP24A1缺乏症的生化特征相似，提示活性维生素D升高和高钙尿可能是潜在的致囊因素。需要进一步的研究来了解SLC34A3的基因变化如何有利于包囊的形成。
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare monogenic disorder caused by SLC34A3 pathogenic variants. HHRH is characterized by kidney phosphate wasting, hypophosphatemia, hypercalciuria, an elevated 1,25-dihydroxyvitamin D level, nephrocalcinosis, and urinary stone disease. Previously, we reported a 100% prevalence of kidney cysts in the related CYP24A1 deficiency. Thus, in the current study, we characterized cysts’ presence in HHRH, another monogenic cause of hypercalciuria, nephrocalcinosis, and urinary stone disease. Case series. Medical records from the Mayo Clinic and the Rare Kidney Stone Consortium monogenic stone disease database were queried for patients with a genetically confirmed HHRH diagnosis. The number, sizes, and locations of kidney cysts in each patient were recorded. Twelve patients with SLC34A3 pathogenic variants were identified (7 monoallelic, 5 biallelic). Of these, 5 (42%) were males, and the median (Q1, Q3) ages were 16 years (13, 35 years) at clinical presentation and 42 years (20, 57 years) at genetic confirmation. Kidney cysts were present in 9 of 12 (75%) patients, and the median (Q1, Q3) age at first cyst detection was 41 years (13, 50 years). The median number of cysts per patient was 2.0 (0.5, 3.5). Fifty percent of adult patients had a cyst number that exceeded the 97.5th percentile of an age- and sex-matched control population. All children had at least 2 or more total cysts. None had a family history of cystic kidney disease. Retrospective study, possible selection bias, single-center experience. A strong association between HHRH and kidney cysts was observed. Similarities in the biochemical profiles of HHRH and CYP24A1 deficiency suggest elevated active vitamin D and hypercalciuria may be potential cystogenic factors. Further studies are needed to understand how genetic changes in SLC34A3 favor cyst formation.
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影响因子：
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